nsv1397981
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:52,345
- Description:GRCh37/hg19 5q23.3(chr5:127469912-127522256)x3 AND Ductal breast carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 179 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1397981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 128,134,220 | 128,186,564 |
| nsv1397981 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 127,469,912 | 127,522,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639330 | copy number gain | Multiple | Multiple | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207210.1, VCV000221447.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639330 | Remapped | Perfect | NC_000005.10:g.128 134220_128186564du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 128,134,220 | 128,186,564 |
| nssv8639330 | Submitted genomic | NC_000005.9:g.1274 69912_127522256dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 127,469,912 | 127,522,256 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv8639330 | GRCh37: NC_000005.9:g.127469912_127522256dup | copy number gain | somatic | Ductal breast carcinoma | Uncertain significance | ClinVar | RCV000207210.1, VCV000221447.1 | 3 |